We investigated the influence of insulin concentration within the insulin pump on the metabolic and plasma free-insulin changes induced by a 6-h nocturnal interruption of continuous subcutaneous insulin ... [more ▼]

We investigated the influence of insulin concentration within the insulin pump on the metabolic and plasma free-insulin changes induced by a 6-h nocturnal interruption of continuous subcutaneous insulin infusion (CSII) in five C-peptide-negative insulin-dependent diabetic patients with low circulating levels of anti-insulin antibodies. We compared the changes in blood glucose, plasma free fatty acids, 3-hydroxybutyrate, and free insulin during the interruption from 2300 to 0500 h of the Nordisk Infuser loaded with either U-100 or U-20 regular insulin. The decrease in plasma free-insulin levels was slower, resulting in a significantly delayed and smaller increase in blood glucose levels (2.4 +/- 1.6 vs. 7.6 +/- 2.9 mM, P less than .025) when the pump contained U-100 instead of U-20 insulin. Although the increases in levels of plasma free fatty acids were similar in both tests, the rise in plasma 3-hydroxybutyrate levels tended to be reduced with U-100 insulin (414 +/- 139 vs. 639 +/- 67 microM, P less than .10). Thus, our observations indicate that U-100 insulin gives some protection against the metabolic deterioration due to the interruption of CSII so that diabetic patients may be able to remain without the pump for longer periods with concentrated rather than diluted insulin. [less ▲]

The O'okiep Copper District is underlain by voluminous 1035-1210 Ma granite gneiss and granite with remnants of metamorphosed supracrustal rocks. This assemblage was intruded by the 1030 Ma copper-bearing ... [more ▼]

The O'okiep Copper District is underlain by voluminous 1035-1210 Ma granite gneiss and granite with remnants of metamorphosed supracrustal rocks. This assemblage was intruded by the 1030 Ma copper-bearing Koperberg Suite that includes jotunite, anorthosite, biotite diorite and hypersthene-bearing rocks ranging from leuconorite to hypersthenite. New sensitive high-resolution ion microprobe age data demonstrate the presence of 1700-2000 Ma zircon as xenocrysts in all of the intrusive rocks, and as detrital zircon in the metasediments of the Khurisberg Subgroup. These data are consistent with published Sm-Nd model ages of c. 1700 Ma (T-CHUR) and c. 2000 Ma (T-DM) of many of the intrusives that support a major crust-forming event in Eburnian (Hudsonian) times. In addition, U-Th-Pb analyses of zircons from all major rock units define two tectono-magmatic episodes of the Namaquan Orogeny: (1) the O'okiepian Episode (1180-1210 Ma), represented by regional granite plutonism, notably the Nababeep and Modderfontein Granite Gneisses and the Concordia and Kweekfontein Granites that accompanied and outlasted (e.g. Kweekfontein Granite) regional tectonism [F-2(D-2)] and granulite-facies metamorphism (M-2); (2) the Klondikean Episode (1020-1040 Ma), which includes the intrusion of the porphyritic Rietberg Granite and of the Koperberg Suite that are devoid of regional planar or linear fabrics. Klondikean tectonism (D-3) is reflected by major east-west-trending open folds [F-3(D-3a)], and by localized east-west-trending near-vertical ductile folds ['steep structures'; F-4(D-3b)] whose formation was broadly coeval with the intrusion of the Koperberg Suite. A regional, largely thermal, amphibolite- to granulite-facies metamorphism (M-3) accompanied D-3. This study demonstrates, inter alia, that the complete spectrum of rock-types of the Koperberg Suite, together with the Rietberg Granite, was intruded in a short time-interval (<10 Myr) at c. 1030 Ma, and that there were lengthy periods of about 150 Myr of tectonic quiescence within the Namaquan Orogeny: (1) between the O'okiepian and Klondikean Episodes; (2) from the end of the latter to the formal end of Namaquan Orogenesis 800-850 Ma ago. [less ▲]

We describe three patients with a comparable deletion encompassing SLC25A43, SLC25A5, CXorf56, UBE2A, NKRF, and two non-coding RNA genes, U1 and LOC100303728. Moderate to severe intellectual disability (ID), psychomotor retardation, severely impaired/absent speech, seizures, and urogenital anomalies were present in all three patients. Facial dysmorphisms include ocular hypertelorism, synophrys, and a depressed nasal bridge. These clinical features overlap with those described in two patients from a family with a similar deletion at Xq24 that also includes UBE2A, and in several patients of Brazilian and Polish families with point mutations in UBE2A. Notably, all five patients with an Xq24 deletion have ventricular septal defects that are not present in patients with a point mutation, which might be attributed to the deletion of SLC25A5. Taken together, the UBE2A deficiency syndrome in male patients with a mutation in or a deletion of UBE2A is characterized by ID, absent speech, seizures, urogenital anomalies, frequently including a small penis, and skin abnormalities, which include generalized hirsutism, low posterior hairline, myxedematous appearance, widely spaced nipples, and hair whorls. Facial dysmorphisms include a wide face, a depressed nasal bridge, a large mouth with downturned corners, thin vermilion, and a short, broad neck. [less ▲]